Spinal Muscular Atrophy (sma) Treatment Via Targeting of Smn2 Splice Site Inhibitory Sequences

The present invention is directed to methods and compositions capable of blocking the inhibitory effect of a newly-identified intronic inhibitory sequence element, named ISS-N1 (for "intronic splicing silencer"), located in the SMN2 gene. The compositions and methods of the instant invention include oligonucleotide reagents (e.g., oligoribonucleotides) that effectively target the SMN2 ISS-N1 site in the SMN2 pre-mRNA, thereby modulating the splicing of SMN2 pre-mRNA to include exon 7 in the processed transcript. The ISS-N1 blocking agents of the invention cause elevated expression of SMN protein, thus compensating for the loss of SMN protein expression commonly observed in subjects with spinal muscular atrophy (SMA).

Attached files:


Patents:
US 20,100,087,511

Inventor(s): SINGH RAVINDRA N [US]; SINGH NATALIA N [US]; SINGH NIRMAL K [US]; ANDROPHY ELLIOT J [US]

Type of Offer: Sale



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